Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00793:Aff4'

12448

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aff4

Ensembl Gene

ENSMUSG00000049470

Gene Name

AF4/FMR2 family, member 4

Synonyms

Laf4l, Alf4

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00793

Quality Score

Status

Chromosome

Chromosomal Location

53350833-53421830 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53411990 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1097 (T1097A)

Ref Sequence

ENSEMBL: ENSMUSP00000051479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060945]

Predicted Effect

probably damaging
Transcript: ENSMUST00000060945
AA Change: T1097A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: T1097A

Domain	Start	End	E-Value	Type
Pfam:AF-4	2	1156	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195888

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice display embryonic and neonatal lethality with incomplete penetrance, abnormal respiration, and shrunken alveoli. Surviving males are infertile with azoospermia and arrest of spermatogenesis but, do not develop hematological abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,397,406	D236G	probably damaging	Het
5031410I06Rik	T	C	5: 26,104,155	R50G	probably damaging	Het
Adam32	A	T	8: 24,837,830		probably benign	Het
Adm	A	G	7: 110,628,581	Y52C	probably damaging	Het
Ccne1	A	C	7: 38,106,301	V50G	probably benign	Het
Copb2	A	G	9: 98,585,004	T636A	probably benign	Het
Cxadr	C	A	16: 78,334,227	Y210*	probably null	Het
Dnajc17	T	C	2: 119,180,960	E163G	probably benign	Het
Dnmt3b	T	A	2: 153,672,502	M405K	possibly damaging	Het
Enpp7	A	T	11: 118,990,545	N172I	probably damaging	Het
G2e3	T	A	12: 51,367,762	S340T	probably benign	Het
Kat2b	A	G	17: 53,665,824	N722S	probably benign	Het
Kcnh5	C	A	12: 75,114,346	V263F	probably damaging	Het
Ldlrad1	A	G	4: 107,217,889	D211G	probably damaging	Het
Lrp1	A	G	10: 127,542,205	V4082A	possibly damaging	Het
Mycbp2	A	T	14: 103,126,753	V4370D	possibly damaging	Het
Npsr1	G	T	9: 24,254,693	R125L	probably damaging	Het
Osbpl9	T	C	4: 109,087,431	I116V	probably damaging	Het
Parp4	G	T	14: 56,602,877	A580S	possibly damaging	Het
Pfkm	T	C	15: 98,125,594	V391A	probably benign	Het
Psen1	T	A	12: 83,723,018	S170T	probably damaging	Het
Rsbn1l	C	T	5: 20,896,155	V796I	probably benign	Het
Slc39a8	A	G	3: 135,884,733	I396V	probably benign	Het
Spag16	T	C	1: 70,299,650	C436R	probably damaging	Het
Stpg1	A	G	4: 135,506,407		probably benign	Het
Tmem57	A	G	4: 134,828,206	S319P	probably damaging	Het
Tmem86b	A	G	7: 4,628,757		probably benign	Het
Trf	A	G	9: 103,226,143		probably benign	Het
Trim61	A	T	8: 65,014,091	Y173N	possibly damaging	Het
Wrap73	T	C	4: 154,152,639	S228P	probably damaging	Het
Zfc3h1	T	C	10: 115,416,874	V1364A	probably benign	Het

Other mutations in Aff4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Aff4	APN	11	53402500	missense	probably benign
IGL01446:Aff4	APN	11	53415469	missense	probably damaging	0.99
IGL02151:Aff4	APN	11	53399806	missense	probably benign
IGL02526:Aff4	APN	11	53406682	splice site	probably benign
IGL02567:Aff4	APN	11	53372751	missense	possibly damaging	0.64
IGL02633:Aff4	APN	11	53409371	splice site	probably benign
IGL02707:Aff4	APN	11	53399740	missense	probably benign
R0090:Aff4	UTSW	11	53392782	missense	probably benign	0.01
R0128:Aff4	UTSW	11	53415466	missense	probably damaging	0.99
R0243:Aff4	UTSW	11	53397858	missense	possibly damaging	0.74
R0345:Aff4	UTSW	11	53372881	missense	probably benign	0.00
R0347:Aff4	UTSW	11	53400088	missense	probably benign	0.01
R0732:Aff4	UTSW	11	53375596	missense	probably benign
R0737:Aff4	UTSW	11	53410953	nonsense	probably null
R1464:Aff4	UTSW	11	53372524	missense	probably damaging	0.97
R1464:Aff4	UTSW	11	53372524	missense	probably damaging	0.97
R1500:Aff4	UTSW	11	53372378	missense	probably benign	0.00
R1693:Aff4	UTSW	11	53396553	missense	probably damaging	1.00
R1743:Aff4	UTSW	11	53368695	missense	possibly damaging	0.65
R1961:Aff4	UTSW	11	53372999	missense	probably damaging	1.00
R2048:Aff4	UTSW	11	53398385	missense	probably benign	0.39
R2138:Aff4	UTSW	11	53372512	missense	possibly damaging	0.94
R2155:Aff4	UTSW	11	53399619	missense	probably damaging	1.00
R2379:Aff4	UTSW	11	53408478	splice site	probably benign
R4156:Aff4	UTSW	11	53410899	intron	probably benign
R5001:Aff4	UTSW	11	53404357	missense	probably damaging	1.00
R5281:Aff4	UTSW	11	53372288	missense	probably damaging	1.00
R5477:Aff4	UTSW	11	53408472	critical splice donor site	probably null
R5677:Aff4	UTSW	11	53400275	missense	possibly damaging	0.55
R5992:Aff4	UTSW	11	53373010	missense	probably damaging	0.99
R6576:Aff4	UTSW	11	53400441	missense	probably damaging	1.00
R6764:Aff4	UTSW	11	53399830	missense	probably damaging	1.00
R6988:Aff4	UTSW	11	53398237	missense	probably damaging	1.00
R7034:Aff4	UTSW	11	53408409	missense	probably damaging	0.99
R7177:Aff4	UTSW	11	53406639	missense	probably benign	0.10
R7426:Aff4	UTSW	11	53372875	missense	probably damaging	1.00
R7755:Aff4	UTSW	11	53398379	missense	probably damaging	0.97

Posted On

2012-12-06